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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2P
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Accession:DOID:0110293 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. (DO)
Synonyms:exact_synonym: LGMD2P;   MDDGC9;   MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C9
 primary_id: OMIM:613818
 alt_id: RDO:9000584
 xref: ORDO:280333
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Neurodevelopmental Disorders 4071
        intellectual disability 1706
          autosomal recessive limb-girdle muscular dystrophy type 2P 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        peripheral nervous system disease 2126
          neuropathy 1949
            neuromuscular disease 1521
              muscular disease 958
                muscle tissue disease 685
                  myopathy 551
                    muscular dystrophy 276
                      limb-girdle muscular dystrophy 121
                        autosomal recessive limb-girdle muscular dystrophy 105
                          autosomal recessive limb-girdle muscular dystrophy type 2P 1
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